ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13361T>A (p.Val4454Asp) (rs148033154)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507584 SCV000605546 uncertain significance not specified 2017-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000507584 SCV000967568 uncertain significance not specified 2019-02-06 criteria provided, single submitter clinical testing The p.Val4454Asp variant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome but has been identified in 0.22% (56/24948) of African chromosomes by gnomAD ( Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PP3, BS1_Supporting.
Blueprint Genetics RCV001074764 SCV001240359 likely pathogenic Retinal dystrophy 2019-05-27 criteria provided, single submitter clinical testing
National Institute on Deafness and Communication Disorders,National Institutes of Health RCV001328024 SCV001519365 uncertain significance Childhood onset hearing loss 2021-07-08 criteria provided, single submitter research PP3 (non REVEL) / Modifications from PMID: 30311386 for classification: The genetic causes of hearing loss have not yet been well characterized in the Yoruba population, and the information regarding variant MAF in this population is still limited, so we did not exclude any variant based on their "high" MAF. PP3 criteria was applied even if the REVEL score was below 0.7, if at least two of the pathogenicity prediction algorithms used predicted that the variant was damaging or likely damaging.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001374885 SCV001572165 uncertain significance Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.13361T>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Invitae RCV001425706 SCV001628342 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001425706 SCV001794477 uncertain significance not provided 2020-11-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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